(Q42919362)

English

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

scientific article published on 22 November 2012

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scholarly article

1 reference

Europe PubMed Central

11 November 2017

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency (English)

1 reference

Europe PubMed Central

11 November 2017

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inferred from title

Hugh J. McMillan

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Hugh J McMillan

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Jeremy Schwartzentruber

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Jeremy Schwartzentruber

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15

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Kym M Boycott

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Europe PubMed Central

11 November 2017

Ronald J A Wanders

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Ronald J A Wanders

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11 November 2017

Sacha Ferdinandusse

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Sacha Ferdinandusse

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Europe PubMed Central

11 November 2017

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Jacek Majewski

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Europe PubMed Central

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FORGE Canada Consortium

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Europe PubMed Central

11 November 2017

Chandree L Beaulieu

7

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Chandree L Beaulieu

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Europe PubMed Central

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Dennis E Bulman

12

object named as

Dennis E Bulman

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Europe PubMed Central

11 November 2017

author name string

Thea Worthylake

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Europe PubMed Central

11 November 2017

Chloe C Gottlieb

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Sarah E Lawrence

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Alex Mackenzie

6

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11 November 2017

Petra A W Mooyer

8

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11 November 2017

Michael T Geraghty

13

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11 November 2017

publication date

22 November 2012

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11 November 2017

Orphanet Journal of Rare Diseases

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11 November 2017

7

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11 November 2017

90

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11 November 2017

https://scigraph.springernature.com/pub.10.1186/1750-1172-7-90

0 references

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551712

27 May 2018

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551712

27 May 2018

The Sequence Alignment/Map format and SAMtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551712

27 May 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551712

27 May 2018

Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551712

27 May 2018

Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551712

27 May 2018

Molecular basis of d-bifunctional protein deficiency

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551712

27 May 2018

https://api.crossref.org/works/10.1186%2F1750-1172-7-90

21 January 2018

Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551712

16 August 2018

Clinical and biochemical spectrum of D-bifunctional protein deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3551712

16 August 2018

Further characterization of the peroxisomal 3-hydroxyacyl-CoA dehydrogenases from rat liver. Relationship between the different dehydrogenases and evidence that fatty acids and the C27 bile acids di- and tri-hydroxycoprostanic acids are metabolized

1 reference

https://pubmed.ncbi.nlm.nih.gov/23181892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inactivation of the peroxisomal multifunctional protein-2 in mice impedes the degradation of not only 2-methyl-branched fatty acids and bile acid intermediates but also of very long chain fatty acids

1 reference

https://pubmed.ncbi.nlm.nih.gov/23181892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neurodegeneration in D-bifunctional protein deficiency: diagnostic clues and natural history using serial magnetic resonance imaging

1 reference

https://pubmed.ncbi.nlm.nih.gov/23181892

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1186/1750-1172-7-90

1 reference

Europe PubMed Central

11 November 2017

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release_kqq7kjs2tvau3iooq2r3g3ffr4

1 reference

https://api.fatcat.wiki/v0/release/kqq7kjs2tvau3iooq2r3g3ffr4

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

11 November 2017

1 reference

Europe PubMed Central

11 November 2017

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